CHRNA3

cholinergic receptor nicotinic alpha 3 subunit
OMIM: 118503, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CHRNA3 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 0.201

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800

    Green CHRNA3 in Mendeliome


    Version 1.4558

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800

    Green CHRNA3 in Fetal anomalies


    Version 1.543

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800